ACAN, aggrecan, 176

N. diseases: 187; N. variants: 31
Disease: Spondyloepimetaphyseal Dysplasia, Aggrecan Type ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913568
rs121913568 		1.000 0.080 15 88872038 missense variant G/A snv
CUI: C2748544
Disease: Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Aggrecan Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2009 2009
dbSNP: rs1567185220
rs1567185220 		1.000 0.080 15 88856723 missense variant G/T snv
CUI: C2748544
Disease: Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Aggrecan Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1567186585
rs1567186585 		1.000 0.080 15 88857646 missense variant T/A snv
CUI: C2748544
Disease: Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Aggrecan Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0